Board certified pediatrician and MPS II parent Katey Hoffman gives a comprehensive presentation on Hunter syndrome.

The article titled "The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life," published in the Orphanet Journal of Rare Diseases in July 2013, examines how Hunter syndrome (MPS II) affects patients' health-related quality of life (HRQL). Utilizing the Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) and other validated questionnaires, the study assessed both patient and parent perspectives prior to enzyme replacement therapy. Findings revealed significant impairments in physical function and daily activities, with notable challenges in psychological aspects such as self-esteem and family cohesion. When compared to other pediatric populations with chronic conditions, individuals with MPS II reported consistently lower HRQL scores. The study underscores the profound impact of MPS II on both physical and psychological well-being, highlighting the need for comprehensive care approaches

MPS II is one of a group of seven hereditary metabolic diseases known as the mucopolysaccharidoses, which in turn, are part of a group known as lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, including MPS II, deficiency or improper functioning of lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates in cells (mucopolysaccharides, also known as glycosaminoglycans) within various tissues, such as the skeleton, joints, brain, spinal cord, heart, spleen, or liver.

The Dr. Joseph Muenzer MPS Research and Treatment Center is focused on treating patients in the mucopolysaccharidosis (MPS) family of diseases and leading research in this area. The work is led by world-renowned MPS expert, Joseph Muenzer, MD, PhD, Bryson Distinguished Professor. Our team is dedicated to developing new avenues of treatment for children and adults with MPS, including clinical trials to test new forms of intravenous enzyme replacement therapy as well as alternative therapies, such as gene therapy and intrathecal drug delivery devices.

This workshop discusses all things IEP. Experienced IEP advocate, Lindsay Vose, presents a step by step guide to IEPs.

Ashly Wiebelt, M.S. CCC-SLP, a seasoned speech-language pathologist and mother of a child with Hunter syndrome, will be featured in Project Alive's April webinar. This special session will focus on speech-language pathology strategies tailored for boys with Hunter syndrome, also known as MPS II. With over 17 years of experience in early childhood intervention, Ashly brings both professional expertise and personal insight to the discussion. She is a dedicated advocate within the Hunter syndrome community and serves on the board of Project Alive. In the webinar, Ashly will share effective tools and best practices for supporting communication development in individuals with Hunter syndrome. Topics will include alternative communication methods and how these approaches may evolve as the disease progresses.

The Arc is an organization dedicated to promoting and protecting the rights of people with intellectual and developmental disabilities. Their mission is to ensure full inclusion and participation in the community throughout individuals' lifetimes. They focus on advocacy, grassroots initiatives, and providing resources on various aspects of community life, such as education, employment, healthcare, and housing. The Arc also offers digital skills training, annual events, and a network of chapters across the U.S. to support their cause.

Disability Rights Education and Defense Fund (DREDF), founded in 1979, is a leading national civil rights law and policy center directed by individuals with disabilities and parents who have children with disabilities. Our mission is to advance the civil and human rights of people with disabilities through legal advocacy, training, education, and public policy and legislative development.

Julie Eisengart, PhD, LP, the Associate Professor of Pediatrics of the Neurodevelopmental Program in Rare Disease at the University of Minnesota, presents on Accommodating Behaviors in the Classroom & Clinic at the 2024 Hunter Syndrome Community Conference hosted by Project Alive.

The Sibling Support Project has published books, articles and papers about, for, and largely by, siblings of all ages. We recognize that a great place to learn about and “meet” siblings is on the pages of books. We are dedicated to expanding opportunities to promote awareness and understanding of siblings and siblings' issues through the written word.

Written collaboratively by mother and son, Extraordinary! A Book for Children with Rare Diseases opens up a child-friendly discussion about identity, inclusion, and self-concept in light of the challenges and silver linings of living with a rare disease. The gentle lessons draw on the co-author's firsthand experience of growing up with an ultra-rare disease and offer young readers a framework for understanding personal identity and how their rare diseases can help shape it in positive ways. Family members and caregivers are invited to share in this conversation and to customize the reading according to each young reader’s developmental needs.

In Views from Our Shoes, 45 siblings share their experiences as the brother or sister of someone with a disability. The children whose essays are featured here range from four to eighteen and are the siblings of youngsters with a variety of special needs, including autism, cerebral palsy, developmental delays, ADD, hydrocephalus, visual and hearing impairments, Down and Tourette syndromes. Their personal tales introduce young siblings to others like them, perhaps for the first time, and allow them to compare experiences. A glossary of disabilities provides easy-to-understand definitions of many of the conditions mentioned.

The CPN Siblings Cope Guide is a resource for parents navigating the emotional challenges siblings face when their brother or sister has a serious illness. It emphasizes the importance of open communication and validation of siblings' feelings, including common reactions like feeling invisible, jealousy, guilt, pressure to be perfect, and fear of the future.

The Arc is an organization dedicated to promoting and protecting the rights of people with intellectual and developmental disabilities. Their mission is to ensure full inclusion and participation in the community throughout individuals' lifetimes. They focus on advocacy, grassroots initiatives, and providing resources on various aspects of community life, such as education, employment, healthcare, and housing. The Arc also offers digital skills training, annual events, and a network of chapters across the U.S. to support their cause.

NORD provides essential support for individuals with rare diseases, including financial assistance, caregiver resources, patient advocacy connections, and access to Centers of Excellence for specialized care. They also host community events like the Living Rare, Living Stronger Patient & Family Forum to foster support and awareness.

312-939-3513 info@frcd.org The Family Resource Center on Disabilities (FRCD) stands as a beacon of support and empowerment for families in the Chicago Metropolitan Area who have children with disabilities. Dedicated to ensuring that every child receives the quality education and services they deserve, FRCD offers a wealth of resources and guidance to parents navigating the intricate landscape of special education. Serving eight Illinois counties – Cook, DuPage, Grundy, Kane, Kendall, Lake, McHenry, and Will – FRCD is a vital partner in the journey towards providing children with disabilities the opportunity to lead productive and independent adult lives.

424-334-1773 info@awalkonwater.org Since launching in 2012, A Walk on Water (AWOW) has served thousands of children with unique needs, and their families through transformative Surf Therapy. AWOW Surf Therapy is uniquely built on the concept of including the entire family in a connection to the healing powers of the ocean and our natural world. By creating positive, uplifting, and empowering experiences, we are rewriting the expectation of what “therapy” can be. Surf Therapy is generally defined as the act of guided surf instruction provided by highly trained Surf Instructors, in concert with a carefully constructed and supportive team of volunteers and staff. While Surf Therapy is the core offering of AWOW and the driving force of our efforts, our events offer additional elements that add to the ability to feel fulfilled and rejuvenated. Some of the offerings include yoga, massage therapy, art therapy, music therapy, food and drink, and many different variations of sport and play on the beach. We consider ourselves–our volunteers, partners, and participants–one big family: Our AWOW Family. By maintaining a high ratio of volunteers to athletes, AWOW has built a platform that allows each participant the chance to bond with fellow athletes and volunteers, forming meaningful, lasting relationships. These lifelong bonds are vital to developing the confidence necessary for each child to succeed not only in the highly difficult skill of surfing but more importantly, in navigating the waters of life. Diligently, we work to enable our amazing athletes to realize confidence in themselves. We’re equipping our participants to defy expectations, rewrite their futures, and emerge from the ocean with one belief; we are all ATHLETES.

The Hunter Syndrome Foundation is a U.S. 501(c)3 non-profit corporation (IRS Tax ID# 46-4296623) with a mission to fund research, support families, and raise awareness of this rare disease. The Foundation was founded in 2013 by parents with children affected by Hunter Syndrome. Hunter Syndrome or Mucopolysaccharidosis Type II (MPS II) is a rare genetic disorder that slowly destroys the body’s cells. This is a rare condition affecting 1 in 150,000 males. There is currently no cure, and the disease is progressive and life-limiting.

At the MPS SuperHero Foundation, we are driven by a passionate commitment to making a difference in the lives of those affected by MPS (Mucopolysaccharidoses). Our core bylaws reflect our dedication to raising awareness, funding crucial research initiatives, and providing vital support to families facing the challenges of MPS.

Family Voices is a national family-led organization of families and friends of children and youth with special health care needs (CYSHCN) and disabilities. We connect a network of family organizations across the United States that provide support to families of CYSHCN. We promote partnership with families at all levels of health care–individual and policy decision-making levels—to improve health care services and policies for children.

Phone: (202) 454-3970 Email: info@caregiveraction.org Caregiver Action Network (CAN) is the nation’s leading family caregiver organization working to improve the quality of life for the more than 90 million Americans who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. CAN serves a broad spectrum of family caregivers ranging from the parents of children with significant health needs, to the families and friends of wounded soldiers; from a young couple dealing with a diagnosis of MS, to adult children caring for parents with Alzheimer’s disease. CAN (the National Family Caregivers Association EIN 52-1780405) is a non-profit organization providing education, peer support, and resources to family caregivers across the country free of charge.

Cozi is a highly rated family organizer app designed to keep busy families on the same page. It can be especially helpful for siblings who want to stay involved in their brother or sister’s care by providing a single, shared platform for coordinating appointments, tracking medications, and managing daily routines.